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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 4535

FusionGeneSummary for BTBD7_EEF1A1

check button Fusion gene summary
Fusion gene informationFusion gene name: BTBD7_EEF1A1
Fusion gene ID: 4535
HgeneTgene
Gene symbol

BTBD7

EEF1A1

Gene ID

55727

1915

Gene nameBTB domain containing 7eukaryotic translation elongation factor 1 alpha 1
SynonymsFUP1CCS-3|CCS3|EE1A1|EEF-1|EEF1A|EF-Tu|EF1A|GRAF-1EF|HNGC:16303|LENG7|PTI1|eEF1A-1
Cytomap

14q32.12

6q13

Type of geneprotein-codingprotein-coding
DescriptionBTB/POZ domain-containing protein 7BTB (POZ) domain containing 7elongation factor 1-alpha 1CTCL tumor antigenEF-1-alpha-1EF1a-like proteincervical cancer suppressor 3elongation factor 1 alpha subunitelongation factor Tueukaryotic elongation factor 1 A-1eukaryotic translation elongation factor 1 alpha 1-like 14
Modification date2018051920180523
UniProtAcc

Q9P203

P68104

Ensembl transtripts involved in fusion geneENST00000334746, ENST00000554565, 
ENST00000393170, ENST00000298896, 
ENST00000555525, 
ENST00000316292, 
ENST00000491404, ENST00000309268, 
ENST00000331523, 
Fusion gene scores* DoF score4 X 4 X 3=489 X 7 X 1=63
# samples 510
** MAII scorelog2(5/48*10)=0.0588936890535686
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(10/63*10)=0.666576266274808
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: BTBD7 [Title/Abstract] AND EEF1A1 [Title/Abstract] AND fusion [Title/Abstract]

Functional or gene categories assigned by FusionGDB annotation
* DoF score (Degree of Frequency) = # partners X # break points X # cancer types
** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
TgeneEEF1A1

GO:0071364

cellular response to epidermal growth factor stimulus

9852145


check button Fusion gene information from three resources
(ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018))
* All genome coordinats were lifted-over on hg19.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.
Data typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChiTaRS3.1BC006102BTBD7chr14

93708104

+EEF1A1chr6

74229761

-
ChiTaRS3.1BC023536BTBD7chr14

93708104

+EEF1A1chr6

74229761

-
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

check button Open reading frame (ORF) analsis of fusion genes based on Ensembl gene isoform structure.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.
ORFHenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrand
intron-5UTRENST00000334746ENST00000316292BTBD7chr14

93708104

+EEF1A1chr6

74229761

-
intron-intronENST00000334746ENST00000491404BTBD7chr14

93708104

+EEF1A1chr6

74229761

-
intron-5UTRENST00000334746ENST00000309268BTBD7chr14

93708104

+EEF1A1chr6

74229761

-
intron-5UTRENST00000334746ENST00000331523BTBD7chr14

93708104

+EEF1A1chr6

74229761

-
intron-5UTRENST00000554565ENST00000316292BTBD7chr14

93708104

+EEF1A1chr6

74229761

-
intron-intronENST00000554565ENST00000491404BTBD7chr14

93708104

+EEF1A1chr6

74229761

-
intron-5UTRENST00000554565ENST00000309268BTBD7chr14

93708104

+EEF1A1chr6

74229761

-
intron-5UTRENST00000554565ENST00000331523BTBD7chr14

93708104

+EEF1A1chr6

74229761

-
intron-5UTRENST00000393170ENST00000316292BTBD7chr14

93708104

+EEF1A1chr6

74229761

-
intron-intronENST00000393170ENST00000491404BTBD7chr14

93708104

+EEF1A1chr6

74229761

-
intron-5UTRENST00000393170ENST00000309268BTBD7chr14

93708104

+EEF1A1chr6

74229761

-
intron-5UTRENST00000393170ENST00000331523BTBD7chr14

93708104

+EEF1A1chr6

74229761

-
intron-5UTRENST00000298896ENST00000316292BTBD7chr14

93708104

+EEF1A1chr6

74229761

-
intron-intronENST00000298896ENST00000491404BTBD7chr14

93708104

+EEF1A1chr6

74229761

-
intron-5UTRENST00000298896ENST00000309268BTBD7chr14

93708104

+EEF1A1chr6

74229761

-
intron-5UTRENST00000298896ENST00000331523BTBD7chr14

93708104

+EEF1A1chr6

74229761

-
intron-5UTRENST00000555525ENST00000316292BTBD7chr14

93708104

+EEF1A1chr6

74229761

-
intron-intronENST00000555525ENST00000491404BTBD7chr14

93708104

+EEF1A1chr6

74229761

-
intron-5UTRENST00000555525ENST00000309268BTBD7chr14

93708104

+EEF1A1chr6

74229761

-
intron-5UTRENST00000555525ENST00000331523BTBD7chr14

93708104

+EEF1A1chr6

74229761

-

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FusionProtFeatures for BTBD7_EEF1A1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
BTBD7

Q9P203

EEF1A1

P68104

Acts as a mediator of epithelial dynamics and organbranching by promoting cleft progression. Induced followingaccumulation of fibronectin in forming clefts, leading to localexpression of the cell-scattering SNAIL2 and suppression of E-cadherin levels, thereby altering cell morphology and reducingcell-cell adhesion. This stimulates cell separation at the base offorming clefts by local, dynamic intercellular gap formation andpromotes cleft progression (By similarity). {ECO:0000250}. This protein promotes the GTP-dependent binding ofaminoacyl-tRNA to the A-site of ribosomes during proteinbiosynthesis. With PARP1 and TXK, forms a complex that acts as a Thelper 1 (Th1) cell-specific transcription factor and binds thepromoter of IFN-gamma to directly regulate its transcription, andis thus involved importantly in Th1 cytokine production.{ECO:0000269|PubMed:17177976}.

check buttonRetention analysis result of each fusion partner protein across 39 protein features of UniProt such as six molecule processing features, 13 region features, four site features, six amino acid modification features, two natural variation features, five experimental info features, and 3 secondary structure features. Here, because of limited space for viewing, we only show the protein feature retention information belong to the 13 regional features. All retention annotation result can be downloaded at

download page

.

* Minus value of BPloci means that the break pointn is located before the CDS.
- In-frame and retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note


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FusionGeneSequence for BTBD7_EEF1A1


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences.
(nt: nucleotides, aa: amino acids)

* Fusion amino acid sequences.

* Fusion transcript sequences (only coding sequence (CDS) region).

* Fusion transcript sequences (Full-length transcript).

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FusionGenePPI for BTBD7_EEF1A1


check button Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in

ChiPPI page

.

check button Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)
HgeneHgene's interactorsTgeneTgene's interactors


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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RelatedDrugs for BTBD7_EEF1A1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneEEF1A1P68104DB01593ZincElongation factor 1-alpha 1small moleculeapproved|investigational
TgeneEEF1A1P68104DB11638ArtenimolElongation factor 1-alpha 1small moleculeapproved|investigational

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RelatedDiseases for BTBD7_EEF1A1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneEEF1A1C0024667Animal Mammary Neoplasms1CTD_human
TgeneEEF1A1C0024668Mammary Neoplasms, Experimental1CTD_human
TgeneEEF1A1C0038356Stomach Neoplasms1CTD_human